A 29 year old woman fearing premature menopause was referred to our fertility outpatient clinic. She experienced secondary amenorrhea and climacteric symptoms after cessation of oral contraceptives (OCs). There were no signs of acne or hirsutism and the patient had a normal BMI. Blood hormone analysis showed normal TSH and prolactin, high progesterone, LH, FSH, LH/FSH ratio and very high anti-Mullerian hormone (AMH) concentrations.  Estradiol and testosterone concentrations were undetectable. Transvaginal ultrasound showed PCO-like ovaria. Based on the patients’ history, ultrasound evaluation and hormonal profile PCOS was concluded. The patient was reassured and advised to restart OCs.

The patient stopped using OCs after one week because of nausea. Amenorrhea had persisted for another year when she visited our clinic again. A new ultrasound showed a thin endometrium and normal ovaries with multiple folicles. Hormonal analysis was repeated and showed further increased LH and FSH, high AMH and low progesterone concentrations. Estradiol and testosterone concentrations were still undetectable. After exclusion of laboratory artefacts, the hormonal profile raised a suspicion of FSH-resistance. In addition, autoimmune related ovarian resistance and autoimmune polyglandular syndrome (APS) were considered, and an endocrinologist was consulted. Additional hormone analysis revealed severe primary adrenal insufficiency with low cortisol and aldosterone levels. During consultation typical signs of adrenal insufficiency were noted and suppletion was started immediately. The presence of adrenal, ovarian and thyroid auto-antibodies strenghtened our suspicion of a possible underlying APS.

In conclusion, we present a case of severe autoimmune adrenal and ovarian insufficiency with loss of androgen, glucocorticoid and mineralocorticoid production. The patient presented with secondary amenorrhea which was erroneously diagnosed as PCOS. In retrospect the initial blood hormonal profile showed discrepancies as important clues for impaired ovarian or adrenal steroid genesis.